FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3033621857> ?p ?o ?g. }

• W3033621857 endingPage "165.e5" @default.
• W3033621857 startingPage "157" @default.
• W3033621857 abstract "Objective To report detailed knowledge about the clinical manifestations, ciliary phenotypes, genetic spectrum as well as phenotype/genotype correlation in primary ciliary dyskinesia (PCD) in Chinese children. Study design We recruited 50 Chinese children with PCD. Extensive clinical assessments, nasal nitric oxide, high-speed video analysis, transmission electron microscopy, and genetic testing were performed to characterize the phenotypes and genotypes of these patients. Results Common clinical features included chronic wet cough (85.4%), laterality defects (70.0%), and neonatal respiratory distress (55.8%). A high prevalence of congenital abnormalities (30.2%, 13/43), observed in patients who underwent comprehensive examination for comorbidities, included thoracic deformity (11.6%, 5/43), congenital heart disease (9.3%, 4/43), and sensorineural deafness (2.3%, 1/43). For 24 children age >6 years, the mean predicted values of forced expiratory volume in 1 second were 87.2%. Bronchiectasis evident on high-resolution computed tomography was reported in 38.1% of patients (16/42). Biallelic mutations (81 total; 57 novel) were identified in 13 genes: DNAAF3, DNAAF1, DNAH5, DNAH11, CCDC39, CCDC40, CCDC114, CCDC103, HYDIN, CCNO, DNAI1, OFD1, and SPAG1. Overall, ciliary ultrastructural and beat pattern correlated well with the genotype. However, variable phenotypes were also observed in CCDC39 and DNAH5 mutant cilia. Conclusions This large PCD cohort in China broadens the clinical, ciliary phenotypes, and genetic characteristics of children with PCD. Our findings are roughly consistent with previous studies besides some peculiarities such as high prevalence of associated abnormalities." @default.
• W3033621857 created "2020-06-12" @default.
• W3033621857 creator A5008368888 @default.
• W3033621857 creator A5060770488 @default.
• W3033621857 creator A5062203121 @default.
• W3033621857 creator A5068552549 @default.
• W3033621857 date "2020-10-01" @default.
• W3033621857 modified "2023-10-17" @default.
• W3033621857 title "Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China" @default.
• W3033621857 cites W1565910228 @default.
• W3033621857 cites W1833973206 @default.
• W3033621857 cites W1945248290 @default.
• W3033621857 cites W1954696255 @default.
• W3033621857 cites W1965779264 @default.
• W3033621857 cites W1977173098 @default.
• W3033621857 cites W2006492103 @default.
• W3033621857 cites W2028119938 @default.
• W3033621857 cites W2046119237 @default.
• W3033621857 cites W2051978340 @default.
• W3033621857 cites W2064659330 @default.
• W3033621857 cites W2099973681 @default.
• W3033621857 cites W2107060362 @default.
• W3033621857 cites W2107980880 @default.
• W3033621857 cites W2115068324 @default.
• W3033621857 cites W2129639344 @default.
• W3033621857 cites W2139040816 @default.
• W3033621857 cites W2292842383 @default.
• W3033621857 cites W2498494766 @default.
• W3033621857 cites W2554519038 @default.
• W3033621857 cites W2565326930 @default.
• W3033621857 cites W2734816454 @default.
• W3033621857 cites W2743210061 @default.
• W3033621857 cites W2755101109 @default.
• W3033621857 cites W2793474614 @default.
• W3033621857 cites W2809668449 @default.
• W3033621857 cites W2883035074 @default.
• W3033621857 cites W2885967278 @default.
• W3033621857 cites W2886868706 @default.
• W3033621857 cites W2952653115 @default.
• W3033621857 cites W2965159092 @default.
• W3033621857 cites W2991324231 @default.
• W3033621857 cites W4211006694 @default.
• W3033621857 doi "https://doi.org/10.1016/j.jpeds.2020.05.052" @default.
• W3033621857 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32502479" @default.
• W3033621857 hasPublicationYear "2020" @default.
• W3033621857 type Work @default.
• W3033621857 sameAs 3033621857 @default.
• W3033621857 citedByCount "25" @default.
• W3033621857 countsByYear W30336218572020 @default.
• W3033621857 countsByYear W30336218572021 @default.
• W3033621857 countsByYear W30336218572022 @default.
• W3033621857 countsByYear W30336218572023 @default.
• W3033621857 crossrefType "journal-article" @default.
• W3033621857 hasAuthorship W3033621857A5008368888 @default.
• W3033621857 hasAuthorship W3033621857A5060770488 @default.
• W3033621857 hasAuthorship W3033621857A5062203121 @default.
• W3033621857 hasAuthorship W3033621857A5068552549 @default.
• W3033621857 hasConcept C121332964 @default.
• W3033621857 hasConcept C126322002 @default.
• W3033621857 hasConcept C1276947 @default.
• W3033621857 hasConcept C17744445 @default.
• W3033621857 hasConcept C187212893 @default.
• W3033621857 hasConcept C191935318 @default.
• W3033621857 hasConcept C199539241 @default.
• W3033621857 hasConcept C2777714996 @default.
• W3033621857 hasConcept C2777977315 @default.
• W3033621857 hasConcept C2778206077 @default.
• W3033621857 hasConcept C2779134260 @default.
• W3033621857 hasConcept C2779379686 @default.
• W3033621857 hasConcept C2779734285 @default.
• W3033621857 hasConcept C2780405171 @default.
• W3033621857 hasConcept C71924100 @default.
• W3033621857 hasConceptScore W3033621857C121332964 @default.
• W3033621857 hasConceptScore W3033621857C126322002 @default.
• W3033621857 hasConceptScore W3033621857C1276947 @default.
• W3033621857 hasConceptScore W3033621857C17744445 @default.
• W3033621857 hasConceptScore W3033621857C187212893 @default.
• W3033621857 hasConceptScore W3033621857C191935318 @default.
• W3033621857 hasConceptScore W3033621857C199539241 @default.
• W3033621857 hasConceptScore W3033621857C2777714996 @default.
• W3033621857 hasConceptScore W3033621857C2777977315 @default.
• W3033621857 hasConceptScore W3033621857C2778206077 @default.
• W3033621857 hasConceptScore W3033621857C2779134260 @default.
• W3033621857 hasConceptScore W3033621857C2779379686 @default.
• W3033621857 hasConceptScore W3033621857C2779734285 @default.
• W3033621857 hasConceptScore W3033621857C2780405171 @default.
• W3033621857 hasConceptScore W3033621857C71924100 @default.
• W3033621857 hasFunder F4320321001 @default.
• W3033621857 hasLocation W30336218571 @default.
• W3033621857 hasOpenAccess W3033621857 @default.
• W3033621857 hasPrimaryLocation W30336218571 @default.
• W3033621857 hasRelatedWork W1994701226 @default.
• W3033621857 hasRelatedWork W2017629456 @default.
• W3033621857 hasRelatedWork W2096731847 @default.
• W3033621857 hasRelatedWork W2123763668 @default.
• W3033621857 hasRelatedWork W2138597249 @default.
• W3033621857 hasRelatedWork W2585043582 @default.
• W3033621857 hasRelatedWork W4231842162 @default.

• next